- Uses 100% of the patient’s DNA
- Screens for 300+ genetically linked conditions
- Tests for genomic markers of drug sensitivity in 40+ categories
- Results are delivered in about 6 to 8 weeks
- New genetic insights added annually, with no need to retest
Next-gen insights powered by the entire genome
FORESITE 360 uses a “sequence everything” approach when mapping a newborn’s complete genomic profile. This is accomplished by using a simple, noninvasive saliva collection swab to obtain a DNA sample and sequence the entire genome.
Other genetic testing options
Traditional Newborn Screening
- Dried blood sample
- Tests for 30 to 50 disease biomarkers
- Highly targeted, only tests ~0.03% of genome
- Unable to expand offering
Gene Panel Sequencing
- Pre-selected genes only
- Needs an overhaul to add genes
- Only tests 2% of genome
A health resource for years to come
- 40exabytes of data
- Genomics research is estimated to provide 40 EB of data within the next decade*
- ~83%of genes not yet linked to disease+
- FORESITE 360 resports grow as more genetic variants are associated with disease
Each year the latest knowledge about genetically linked conditions and potential new treatments will be compared against the child’s genomic profile for any new health insights, leveraging more than 3 billion dollars spent annually on genomics research in the United States alone.
As genomic research produces further insight, FORESITE 360 continues to provide valuable updates for actionable treatment plans
*One exabyte (EB) is equal to one billion gigabytes.
+As of September 2022.
A lifetime of health information, always secured
No FORESITE 360 information or information about a newborn will be shared with anyone other than parents or legal guardians, their designated physician, and the personal genetic counselor. All information is 100% secure and private at every step of the process, including HIPAA-compliant, US-based storage of data.
Your partner in healthcare:
To add value for patients and your practice, the FORESITE 360 package includes pre- and post-test counseling sessions with specialized, licensed genetic counselors. The genetic counselor will walk parents through the initial report and answer any questions they may have.
- This feature provides the best education for parents and their children, saves money and time for your practice, and helps you with better risk management.
- Genetic counselors can help incorporate genomic health into your practice. In addition to educating parents and their children on the human genome, they can collaborate with you on recommending next steps to parents, creating a child’s health plan, and choosing treatments.
More Technical Information
- FORESITE 360 involves sequencing the whole genome with a mean coverage of 40X. All variants identified will be analyzed according to American College of Medical Genetics and Genomics (ACMG) guidelines. This test includes the reliable detection of deletions, duplications, and other gene- and chromosomal-level events. Mitochondrial DNA analysis is included. In addition to the primary analysis, FORESITE 360 includes comprehensive secondary analysis including the recommended list by ACMG and pharmacogenetic variants.
- Whole genome sequencing is performed on genomic DNA using 2X150bp reads on Illumina next-generation sequencing (NGS) systems at a mean coverage of 40X in the target region.
- A base is considered to have sufficient coverage at 20X, and an exon is considered fully covered if all coding bases plus three nucleotides of flanking sequence are covered at 20X or more. If any, a list of low coverage regions is available upon request.
- Fore and Fore’s service providers have curated deep intronic pathogenic variants in public databases tagged for identification during analysis. Alignment to the human reference genome (hg19) is performed, and annotated variants are identified in the targeted region.
- Variants reviewed have a minimum coverage of 8X and an alternate allele frequency of 20% or higher.
- Indels and single nucleotide variants (SNVs) may be confirmed by Sanger sequence analysis before reporting at the director’s discretion.
- Mitochondrial DNA is sequenced and analyzed using the same pipeline. This assay does not cover genes and exons located in pseudogene regions.
- Copy number variation (CNV) analysis detects deletions and duplications; in some instances, due to the size of the exons, sequence complexity, or other factors, not all CNVs may be analyzed or may be difficult to detect.
- This assay does not interrogate CNVs in mitochondrial DNA. CNV analysis will not detect tandem repeats, balanced alterations (reciprocal translocations, Robertsonian translocations, inversions, and balanced insertions), methylation abnormalities, triploidy, and genomic imbalances in segmentally duplicated regions.
- This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director.
- Primary data analysis and tandem repeats analysis are performed using Illumina DRAGEN Bio-IT Platform v.3.4.12. Secondary and tertiary data analysis is performed using ODIN v.1.01 software for SNVs and Biodiscovery’s NxClinical v.6.1 or Illumina DRAGEN Bio-IT Platform v.3.4.12 for CNV and the absence of heterozygosity (AOH).
- SMA testing and repeat expansion disorder screening are performed using in-house bioinformatics tools based on published literature with modification (PMID: 28125085, 32092542, 28887402, Genereview: NBK535148).
- Raw data (.FASTQ), variant call files (.VCF) and clinical reports are stored in a secure environment until annual FORESITE 360 reanalysis. FORESITE 360 re-analysis begins at alignment to produce a new/updated clinical report.